In fluke experiment, espresso quells rare genetic disease

(Shutterstock photo)
Updated 11 June 2019
0

In fluke experiment, espresso quells rare genetic disease

  • ADCY5-related dyskinesia is a roughly one-in-a-million disease, and there is no known cure
  • The condition is also known as facial myokymia, and is sometimes misdiagnosed as cerebral palsy

PARIS: A lot of people say they cannot live without coffee, but for one 11-year-old boy living in France, that may be literally true.
When his parents accidentally bought decaffeinated capsules recently, a rare genetic muscular disorder — which they knew could be held in check by two shots of espresso per day — flared up, provoking uncontrollable and painful muscle spasms.
Four days of agony, anguish and doctor’s visits followed before his parents realized their mistake.
Once the boy started drinking the caffeinated brew again, the symptoms subsided.
“It’s one of those amazing cases of serendipity that dot the history of medicine,” said Emmanuel Flamand-Roze, a doctor at Pitie-Salpetriere Hospital in Paris and lead author of a study published Tuesday about the disease afflicting his patient.
Unwittingly, Flamand-Roze told AFP, the parents had carried out what scientists called a double-blind placebo experiment — the most rigorous test possible to see if a drug or treatment actually works.
The “double blind” part means that neither the patient nor the persons carrying out the experiment know whether the medicine is the real thing or an inert fake.
In this case, the accidental test proved the efficacy of caffeine as a treatment of dyskinesia — a family of disorders characterized by violent, involuntary muscle movements — caused by a mutation in the ADCY5 gene.
“The arms, legs and face all move wildly,” Flamand-Roze explained.
“This child couldn’t ride a bike, walk home from school, write with a pencil — a seizure-like crisis could strike at any time.”
ADCY5-related dyskinesia is a roughly one-in-a-million disease, and there is no known cure.
The gene in its normal state provides instructions for making an enzyme that helps to regulate muscle contraction.
The mutation disrupts that process, and caffeine helps to restore it.
Doctors had long known that strong coffee helps quell the muscle spasms, but the condition is so rare that there are not enough patients to conduct an experiment in which one group take the “medicine,” and another imbibes a look-alike — in this case, a taste-alike — placebo.
Such an experiment would, in any case, probably raise ethical issues, since researchers would know ahead of time that the placebo group would likely suffer severe discomfort.
The condition is also known as facial myokymia, and is sometimes misdiagnosed as cerebral palsy.
The symptoms typically appear as sudden jerks, twitches and tremors, and writhing, and usually begin between infancy and late adolescence. The movements can occur during waking hours or at night.
The problem can also strike internally with the respiratory muscles.
The study was published in the US-based Annals of Internal Medicine.
pr-mh/pg/pvh


What We Are Reading Today: The Way of Nature by C. C. Tsai

Updated 18 June 2019
0

What We Are Reading Today: The Way of Nature by C. C. Tsai

  • The Way of Nature brings together all of Tsai’s beguiling cartoon illustrations of the Zhuangzi

C. C. Tsai is one of Asia’s most popular cartoonists, and his editions of the Chinese classics have sold more than 40 million copies in over 20 languages. This volume presents Tsai’s delightful graphic adaptation of the profound and humorous Daoist writings of Zhuangzi, some of the most popular and influential in the history of Asian philosophy and culture.

The Way of Nature brings together all of Tsai’s beguiling cartoon illustrations of the Zhuangzi, which takes its name from its author. The result is a uniquely accessible and entertaining adaptation of a pillar of classical Daoism, which has deeply influenced Chinese poetry, landscape painting, martial arts, and Chan (Zen) Buddhism.

The Way of Nature presents the memorable characters, fables, and thought experiments of Zhuangzi like no other edition, challenging readers to dig beneath conventional assumptions about self, society, and nature, and pointing to a more natural way of life. Through practical insights, Zhuangzi shows why returning to the spontaneity of nature is the only sane response to a world of conflict.